Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder

A 13-year-old female patient presenting with nystagmus and defective vision since infancy, underwent ophthalmological, neurological examination, ultra-wide field fundus photography, autofluorescence and electroretinogram. Exome sequencing (ES) was done followed by segregation analysis. Analysis of the glycosylation profiles of plasma glycoprotein markers was performed using immunoblotting. […] We report a variant in the SRD3A5 gene reported for the first time in a case of CDG. We are expanding the neurophenotypic spectrum by reporting proximal limb-girdle pattern of weakness combined with diffusely brisk reflexes and bilateral extensor plantar responses suggestive of corticospinal or neuromuscular axis involvement.